L9I (p.Leu9Ile) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
L9I (p.Leu9Ile) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- gnomAD 14-74493799-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0483
- REVEL 0.03
- CADD 1.52
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available